ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.676G>A (p.Val226Ile) (rs149603480)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000343343 SCV000397643 likely benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513820 SCV000609966 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing

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